Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.92517348_92518796delCA916082939PEX1c.357+202_1170del
n.357+202_1170del
c.273+3309_274-3378del (p.=)
n.396+167_1209del
c.-268+167_546del
n.453+202_1266del
n.404+202_1217del
ClinVar
7g.92517783delCA16041171PEX1c.734del (p.Leu245TyrfsTer4)
n.734del (p.Leu245TyrfsTer4)
c.274-3814del (p.=)
n.773del
c.110del (p.Leu37TyrfsTer4)
n.830del
n.781del
ClinVar dbSNP
7g.92517783A>CCA368200241PEX1c.732T>G (p.Ser244Arg)
n.732T>G (p.Ser244Arg)
c.274-3816T>G (p.=)
n.771T>G
c.108T>G (p.Ser36Arg)
n.828T>G
n.779T>G
7g.92517783A>GCA456624308PEX1c.732T>C (p.Ser244=)
n.732T>C (p.Ser244=)
c.274-3816T>C (p.=)
n.771T>C
c.108T>C (p.Ser36=)
n.828T>C
n.779T>C
7g.92517783A>TCA368200244PEX1c.732T>A (p.Ser244Arg)
n.732T>A (p.Ser244Arg)
c.274-3816T>A (p.=)
n.771T>A
c.108T>A (p.Ser36Arg)
n.828T>A
n.779T>A
7g.92517784C>ACA368200245PEX1c.731G>T (p.Ser244Ile)
n.731G>T (p.Ser244Ile)
c.274-3817G>T (p.=)
n.770G>T
c.107G>T (p.Ser36Ile)
n.827G>T
n.778G>T
7g.92517784C>GCA368200247PEX1c.731G>C (p.Ser244Thr)
n.731G>C (p.Ser244Thr)
c.274-3817G>C (p.=)
n.770G>C
c.107G>C (p.Ser36Thr)
n.827G>C
n.778G>C
7g.92517784C>TCA368200250PEX1c.731G>A (p.Ser244Asn)
n.731G>A (p.Ser244Asn)
c.274-3817G>A (p.=)
n.770G>A
c.107G>A (p.Ser36Asn)
n.827G>A
n.778G>A
7g.92517785T>ACA368200257PEX1c.730A>T (p.Ser244Cys)
n.730A>T (p.Ser244Cys)
c.274-3818A>T (p.=)
n.769A>T
c.106A>T (p.Ser36Cys)
n.826A>T
n.777A>T
7g.92517785T>CCA368200253PEX1c.730A>G (p.Ser244Gly)
n.730A>G (p.Ser244Gly)
c.274-3818A>G (p.=)
n.769A>G
c.106A>G (p.Ser36Gly)
n.826A>G
n.777A>G
7g.92517785T>GCA368200255PEX1c.730A>C (p.Ser244Arg)
n.730A>C (p.Ser244Arg)
c.274-3818A>C (p.=)
n.769A>C
c.106A>C (p.Ser36Arg)
n.826A>C
n.777A>C
7g.92517786T>ACA456624312PEX1c.729A>T (p.Ala243=)
n.729A>T (p.Ala243=)
c.274-3819A>T (p.=)
n.768A>T
c.105A>T (p.Ala35=)
n.825A>T
n.776A>T
7g.92517786T>CCA456624313PEX1c.729A>G (p.Ala243=)
n.729A>G (p.Ala243=)
c.274-3819A>G (p.=)
n.768A>G
c.105A>G (p.Ala35=)
n.825A>G
n.776A>G
7g.92517786T>GCA456624314PEX1c.729A>C (p.Ala243=)
n.729A>C (p.Ala243=)
c.274-3819A>C (p.=)
n.768A>C
c.105A>C (p.Ala35=)
n.825A>C
n.776A>C
7g.92517787G>ACA368200259PEX1c.728C>T (p.Ala243Val)
n.728C>T (p.Ala243Val)
c.274-3820C>T (p.=)
n.767C>T
c.104C>T (p.Ala35Val)
n.824C>T
n.775C>T
7g.92517787G>CCA368200264PEX1c.728C>G (p.Ala243Gly)
n.728C>G (p.Ala243Gly)
c.274-3820C>G (p.=)
n.767C>G
c.104C>G (p.Ala35Gly)
n.824C>G
n.775C>G
7g.92517787G>TCA368200261PEX1c.728C>A (p.Ala243Glu)
n.728C>A (p.Ala243Glu)
c.274-3820C>A (p.=)
n.767C>A
c.104C>A (p.Ala35Glu)
n.824C>A
n.775C>A
7g.92517788C>ACA368200267PEX1c.727G>T (p.Ala243Ser)
n.727G>T (p.Ala243Ser)
c.274-3821G>T (p.=)
n.766G>T
c.103G>T (p.Ala35Ser)
n.823G>T
n.774G>T
7g.92517788C=CA1725947881PEX1c.727G= (p.Ala243=)
n.727G= (p.Ala243=)
c.274-3821G= (p.=)
n.766G=
c.103G= (p.Ala35=)
n.823G=
n.774G=
7g.92517788C>GCA368200272PEX1c.727G>C (p.Ala243Pro)
n.727G>C (p.Ala243Pro)
c.274-3821G>C (p.=)
n.766G>C
c.103G>C (p.Ala35Pro)
n.823G>C
n.774G>C
7g.92517788C>TCA368200270PEX1c.727G>A (p.Ala243Thr)
n.727G>A (p.Ala243Thr)
c.274-3821G>A (p.=)
n.766G>A
c.103G>A (p.Ala35Thr)
n.823G>A
n.774G>A
7g.92517789T>ACA456624321PEX1c.726A>T (p.Val242=)
n.726A>T (p.Val242=)
c.274-3822A>T (p.=)
n.765A>T
c.102A>T (p.Val34=)
n.822A>T
n.773A>T
7g.92517789T>CCA456624322PEX1c.726A>G (p.Val242=)
n.726A>G (p.Val242=)
c.274-3822A>G (p.=)
n.765A>G
c.102A>G (p.Val34=)
n.822A>G
n.773A>G
7g.92517789T>GCA456624324PEX1c.726A>C (p.Val242=)
n.726A>C (p.Val242=)
c.274-3822A>C (p.=)
n.765A>C
c.102A>C (p.Val34=)
n.822A>C
n.773A>C
7g.92517790A>CCA368200274PEX1c.725T>G (p.Val242Gly)
n.725T>G (p.Val242Gly)
c.274-3823T>G (p.=)
n.764T>G
c.101T>G (p.Val34Gly)
n.821T>G
n.772T>G
7g.92517790A>GCA368200279PEX1c.725T>C (p.Val242Ala)
n.725T>C (p.Val242Ala)
c.274-3823T>C (p.=)
n.764T>C
c.101T>C (p.Val34Ala)
n.821T>C
n.772T>C
7g.92517790A>TCA368200277PEX1c.725T>A (p.Val242Glu)
n.725T>A (p.Val242Glu)
c.274-3823T>A (p.=)
n.764T>A
c.101T>A (p.Val34Glu)
n.821T>A
n.772T>A
7g.92517791C>ACA368200280PEX1c.724G>T (p.Val242Leu)
n.724G>T (p.Val242Leu)
c.274-3824G>T (p.=)
n.763G>T
c.100G>T (p.Val34Leu)
n.820G>T
n.771G>T
7g.92517791C=CA1725947885PEX1c.724G= (p.Val242=)
n.724G= (p.Val242=)
c.274-3824G= (p.=)
n.763G=
c.100G= (p.Val34=)
n.820G=
n.771G=
7g.92517791C>GCA368200283PEX1c.724G>C (p.Val242Leu)
n.724G>C (p.Val242Leu)
c.274-3824G>C (p.=)
n.763G>C
c.100G>C (p.Val34Leu)
n.820G>C
n.771G>C
7g.92517791C>TCA4341550PEX1c.724G>A (p.Val242Ile)
n.724G>A (p.Val242Ile)
c.274-3824G>A (p.=)
n.763G>A
c.100G>A (p.Val34Ile)
n.820G>A
n.771G>A
ClinVar dbSNP ExAC gnomAD
7g.92517792T>ACA456624327PEX1c.723A>T (p.Ser241=)
n.723A>T (p.Ser241=)
c.274-3825A>T (p.=)
n.762A>T
c.99A>T (p.Ser33=)
n.819A>T
n.770A>T
7g.92517792T>CCA456624328PEX1c.723A>G (p.Ser241=)
n.723A>G (p.Ser241=)
c.274-3825A>G (p.=)
n.762A>G
c.99A>G (p.Ser33=)
n.819A>G
n.770A>G
7g.92517792T>GCA456624329PEX1c.723A>C (p.Ser241=)
n.723A>C (p.Ser241=)
c.274-3825A>C (p.=)
n.762A>C
c.99A>C (p.Ser33=)
n.819A>C
n.770A>C
7g.92517793G>ACA368200287PEX1c.722C>T (p.Ser241Leu)
n.722C>T (p.Ser241Leu)
c.274-3826C>T (p.=)
n.761C>T
c.98C>T (p.Ser33Leu)
n.818C>T
n.769C>T
7g.92517793G>CCA368200290PEX1c.722C>G (p.Ser241Ter)
n.722C>G (p.Ser241Ter)
c.274-3826C>G (p.=)
n.761C>G
c.98C>G (p.Ser33Ter)
n.818C>G
n.769C>G
7g.92517793G>TCA368200293PEX1c.722C>A (p.Ser241Ter)
n.722C>A (p.Ser241Ter)
c.274-3826C>A (p.=)
n.761C>A
c.98C>A (p.Ser33Ter)
n.818C>A
n.769C>A
7g.92517793_92517794delinsGACA1725947889PEX1c.721_722delinsTC (p.Ser241=)
n.721_722delinsTC (p.Ser241=)
c.274-3827_274-3826delinsTC (p.=)
n.760_761delinsTC
c.97_98delinsTC (p.Ser33=)
n.817_818delinsTC
n.768_769delinsTC
7g.92517794delCA161973689PEX1c.721del (p.Ser241GlnfsTer2)
n.721del (p.Ser241GlnfsTer2)
c.274-3827del (p.=)
n.760del
c.97del (p.Ser33GlnfsTer2)
n.817del
n.768del
ClinVar dbSNP
7g.92517794A=CA1725947895PEX1c.721T= (p.Ser241=)
n.721T= (p.Ser241=)
c.274-3827T= (p.=)
n.760T=
c.97T= (p.Ser33=)
n.817T=
n.768T=
7g.92517794A>CCA368200295PEX1c.721T>G (p.Ser241Ala)
n.721T>G (p.Ser241Ala)
c.274-3827T>G (p.=)
n.760T>G
c.97T>G (p.Ser33Ala)
n.817T>G
n.768T>G
7g.92517794A>GCA4341552PEX1c.721T>C (p.Ser241Pro)
n.721T>C (p.Ser241Pro)
c.274-3827T>C (p.=)
n.760T>C
c.97T>C (p.Ser33Pro)
n.817T>C
n.768T>C
dbSNP ExAC gnomAD
7g.92517794A>TCA368200301PEX1c.721T>A (p.Ser241Thr)
n.721T>A (p.Ser241Thr)
c.274-3827T>A (p.=)
n.760T>A
c.97T>A (p.Ser33Thr)
n.817T>A
n.768T>A
7g.92517794_92517809delinsATGATGAGTCAACTGGCA1725947897PEX1c.706_721delinsCCAGTTGACTCATCAT (p.Pro236=)
n.706_721delinsCCAGTTGACTCATCAT (p.Pro236=)
c.274-3842_274-3827delinsCCAGTTGACTCATCAT (p.=)
n.745_760delinsCCAGTTGACTCATCAT
c.82_97delinsCCAGTTGACTCATCAT (p.Pro28=)
n.802_817delinsCCAGTTGACTCATCAT
n.753_768delinsCCAGTTGACTCATCAT
7g.92517795T>ACA456624343PEX1c.720A>T (p.Ser240=)
n.720A>T (p.Ser240=)
c.274-3828A>T (p.=)
n.759A>T
c.96A>T (p.Ser32=)
n.816A>T
n.767A>T
7g.92517795T>CCA456624342PEX1c.720A>G (p.Ser240=)
n.720A>G (p.Ser240=)
c.274-3828A>G (p.=)
n.759A>G
c.96A>G (p.Ser32=)
n.816A>G
n.767A>G
gnomAD
7g.92517795T>GCA456624341PEX1c.720A>C (p.Ser240=)
n.720A>C (p.Ser240=)
c.274-3828A>C (p.=)
n.759A>C
c.96A>C (p.Ser32=)
n.816A>C
n.767A>C
7g.92517795T=CA1725947904PEX1c.720A= (p.Ser240=)
n.720A= (p.Ser240=)
c.274-3828A= (p.=)
n.759A=
c.96A= (p.Ser32=)
n.816A=
n.767A=
7g.92517795_92517809delCA4341551PEX1c.706_720del (p.Pro236_Ser240del)
n.706_720del (p.Pro236_Ser240del)
c.274-3842_274-3828del (p.=)
n.745_759del
c.82_96del (p.Pro28_Ser32del)
n.802_816del
n.753_767del
ClinVar dbSNP ExAC gnomAD
7g.92517796G>ACA368200306PEX1c.719C>T (p.Ser240Leu)
n.719C>T (p.Ser240Leu)
c.274-3829C>T (p.=)
n.758C>T
c.95C>T (p.Ser32Leu)
n.815C>T
n.766C>T

Number of alleles fetched